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MECP2 duplication phenotype in symptomatic females: report of three further cases
BACKGROUND: Xq28 duplications, including MECP2 (methyl CpG-binding protein 2; OMIM 300005), have been identified in approximately 140 male patients presenting with hypotonia, severe developmental delay/intellectual disability, limited or absent speech and ambulation, and recurrent respiratory infect...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922903/ https://www.ncbi.nlm.nih.gov/pubmed/24472397 http://dx.doi.org/10.1186/1755-8166-7-10 |
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author | Novara, Francesca Simonati, Alessandro Sicca, Federico Battini, Roberta Fiori, Simona Contaldo, Annarita Criscuolo, Lucia Zuffardi, Orsetta Ciccone, Roberto |
author_facet | Novara, Francesca Simonati, Alessandro Sicca, Federico Battini, Roberta Fiori, Simona Contaldo, Annarita Criscuolo, Lucia Zuffardi, Orsetta Ciccone, Roberto |
author_sort | Novara, Francesca |
collection | PubMed |
description | BACKGROUND: Xq28 duplications, including MECP2 (methyl CpG-binding protein 2; OMIM 300005), have been identified in approximately 140 male patients presenting with hypotonia, severe developmental delay/intellectual disability, limited or absent speech and ambulation, and recurrent respiratory infections. Female patients with Xq28 duplication have been rarely reported and are usually asymptomatic. Altogether, only fifteen symptomatic females with Xq28 duplications including MECP2 have been reported so far: six of them had interstitial duplications while the remaining had a duplication due to an unbalanced X;autosome translocation. Some of these females present with unspecific mild to moderate intellectual disability whereas a more complex phenotype is reported for females with unbalanced X;autosome translocations. FINDINGS: Here we report on the clinical features of three other adolescent to adult female patients with Xq28 interstitial duplications of variable size, all including MECP2 gene. CONCLUSIONS: Mild to moderate cognitive impairment together with learning difficulties and speech delay were evident in each of our patients. Moreover, early inadequate behavioral patterns followed by persistent difficulties in the social and communication domains, as well as the occurrence of mild psychiatric disturbances, are common features of these three patients. |
format | Online Article Text |
id | pubmed-3922903 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-39229032014-02-14 MECP2 duplication phenotype in symptomatic females: report of three further cases Novara, Francesca Simonati, Alessandro Sicca, Federico Battini, Roberta Fiori, Simona Contaldo, Annarita Criscuolo, Lucia Zuffardi, Orsetta Ciccone, Roberto Mol Cytogenet Short Report BACKGROUND: Xq28 duplications, including MECP2 (methyl CpG-binding protein 2; OMIM 300005), have been identified in approximately 140 male patients presenting with hypotonia, severe developmental delay/intellectual disability, limited or absent speech and ambulation, and recurrent respiratory infections. Female patients with Xq28 duplication have been rarely reported and are usually asymptomatic. Altogether, only fifteen symptomatic females with Xq28 duplications including MECP2 have been reported so far: six of them had interstitial duplications while the remaining had a duplication due to an unbalanced X;autosome translocation. Some of these females present with unspecific mild to moderate intellectual disability whereas a more complex phenotype is reported for females with unbalanced X;autosome translocations. FINDINGS: Here we report on the clinical features of three other adolescent to adult female patients with Xq28 interstitial duplications of variable size, all including MECP2 gene. CONCLUSIONS: Mild to moderate cognitive impairment together with learning difficulties and speech delay were evident in each of our patients. Moreover, early inadequate behavioral patterns followed by persistent difficulties in the social and communication domains, as well as the occurrence of mild psychiatric disturbances, are common features of these three patients. BioMed Central 2014-01-28 /pmc/articles/PMC3922903/ /pubmed/24472397 http://dx.doi.org/10.1186/1755-8166-7-10 Text en Copyright © 2014 Novara et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Short Report Novara, Francesca Simonati, Alessandro Sicca, Federico Battini, Roberta Fiori, Simona Contaldo, Annarita Criscuolo, Lucia Zuffardi, Orsetta Ciccone, Roberto MECP2 duplication phenotype in symptomatic females: report of three further cases |
title | MECP2 duplication phenotype in symptomatic females: report of three further cases |
title_full | MECP2 duplication phenotype in symptomatic females: report of three further cases |
title_fullStr | MECP2 duplication phenotype in symptomatic females: report of three further cases |
title_full_unstemmed | MECP2 duplication phenotype in symptomatic females: report of three further cases |
title_short | MECP2 duplication phenotype in symptomatic females: report of three further cases |
title_sort | mecp2 duplication phenotype in symptomatic females: report of three further cases |
topic | Short Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922903/ https://www.ncbi.nlm.nih.gov/pubmed/24472397 http://dx.doi.org/10.1186/1755-8166-7-10 |
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